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August 1973, Vol 126, No. 2 >
Article | August 1973

Ring-1 Chromosome, Microcephalic Dwarfism, and Acute Myeloid Leukemia FREE

Martin Bobrow, MB; Pauline M. Emerson, MD; Arthur I. Spriggs, DM; Hugh L. Ellis, MD
[+] Author Affiliations

Received for publication Dec 13, 1972; accepted April 5, 1973.

Reprint requests to Department of Haematology, Gibson Laboratories, Radcliffe Infirmary, Oxford, England (Dr. Emerson).


Am J Dis Child. 1973;126(2):257-260. doi:10.1001/archpedi.1973.02110190227024.
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A 9-year-old girl suffered from severe dwarfism, mental retardation, and a ring chromosome No. 1. She developed anemia characterized by multinuclearity of the marrow erythroblasts, and finally died with acute myeloid leukemia. The leukemic cells had a distinctive, pseudodiploid karyotype lacking the ring chromosome. The clinical features are compared with those of two other children with ring chromosome No. 1. The hematological abnormalities are presumed to be related to the development of the leukemic clone.

REFERENCES

1 +
Gordon RR, Cooke P:  Ring 1 chromosome and microcephalic dwarfism . Lancet 2:1212-1213, 1964;.
2 +
Wolf CB, et al:  Ring 1 chromosome and dwarfism: A possible syndrome . J Pediatr 71:719-722, 1967;.
3 +
Sandberg AA, et al:  Chromosomal dichotomy in blood and marrow of acute leukaemia . Cancer Res 22:748-756, 1962;.
4 +
Kistenmacher ML, Punnett HH:  Comparative behaviour of ring chromosomes . Am J Hum Genet 22:304-318, 1970;.
5 +
Wolf CB:  Metabolic studies in a child with ring 1 chromosome . J Pediatr 74:825, 1969;.
6 +
Berman L:  The clinical significance of cellular gigantism in human erythropoiesis . J Lab Clin Med 32:793-806, 1947;.
7 +
Wendt F, Heimpel H:  Kongenitale dyserythropoietische Anamie bei einem zweieiigen Zwillingspaar . Med Klin 62:172-177, 1967;.
8 +
Heimpel H, Wendt F:  Congenital dyserythropoietic anaemia with karyorrhexis and multinuclearity of erythroblasts . Helv Med Acta 34:103-115, 1968;.
9 +
Porter FS, Fitch CD, Dinning JS:  Vitamin E deficiency in the monkey: IV. Further studies of the anaemia with emphasis on bone marrow morphology . Blood 20:471-477, 1962;.
10 +
Castoldi G, et al:  Chromosomal studies in erythroleukaemia and chronic erythremic myelosis . Blood 31:202-215, 1968;.
11 +
Heath CW, et al:  Cytogenetic findings in erythroleukaemia . Blood 33:453-467, 1969;.
12 +
Di Grado F, Mendes FT, Schroeder E:  Ring chromosome in a case of Di Guglielmo syndrome . Lancet 2:1243-1244, 1964;.
13 +
Harnden DG:  The role of genetic change in neoplasia: Constitutional chromosome abnormalities , in Genetic Concepts and Neoplasia , 23rd annual symposium on fundamental cancer research, M.D. Anderson Hospital, Houston. Baltimore, Williams & Wilkins Co, 1970;, p 31.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

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References

1 +
Gordon RR, Cooke P:  Ring 1 chromosome and microcephalic dwarfism . Lancet 2:1212-1213, 1964;.
2 +
Wolf CB, et al:  Ring 1 chromosome and dwarfism: A possible syndrome . J Pediatr 71:719-722, 1967;.
3 +
Sandberg AA, et al:  Chromosomal dichotomy in blood and marrow of acute leukaemia . Cancer Res 22:748-756, 1962;.
4 +
Kistenmacher ML, Punnett HH:  Comparative behaviour of ring chromosomes . Am J Hum Genet 22:304-318, 1970;.
5 +
Wolf CB:  Metabolic studies in a child with ring 1 chromosome . J Pediatr 74:825, 1969;.
6 +
Berman L:  The clinical significance of cellular gigantism in human erythropoiesis . J Lab Clin Med 32:793-806, 1947;.
7 +
Wendt F, Heimpel H:  Kongenitale dyserythropoietische Anamie bei einem zweieiigen Zwillingspaar . Med Klin 62:172-177, 1967;.
8 +
Heimpel H, Wendt F:  Congenital dyserythropoietic anaemia with karyorrhexis and multinuclearity of erythroblasts . Helv Med Acta 34:103-115, 1968;.
9 +
Porter FS, Fitch CD, Dinning JS:  Vitamin E deficiency in the monkey: IV. Further studies of the anaemia with emphasis on bone marrow morphology . Blood 20:471-477, 1962;.
10 +
Castoldi G, et al:  Chromosomal studies in erythroleukaemia and chronic erythremic myelosis . Blood 31:202-215, 1968;.
11 +
Heath CW, et al:  Cytogenetic findings in erythroleukaemia . Blood 33:453-467, 1969;.
12 +
Di Grado F, Mendes FT, Schroeder E:  Ring chromosome in a case of Di Guglielmo syndrome . Lancet 2:1243-1244, 1964;.
13 +
Harnden DG:  The role of genetic change in neoplasia: Constitutional chromosome abnormalities , in Genetic Concepts and Neoplasia , 23rd annual symposium on fundamental cancer research, M.D. Anderson Hospital, Houston. Baltimore, Williams & Wilkins Co, 1970;, p 31.

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